Varaico: Literature-Extracted Genetic Variants

Gene:AKAP3

AKAP3

103 papers

RefSeq Summary

This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is ...

Pfam Domains

AKAP_110aa 166–853UCSCA-kinase anchor protein 110 kDa (AKAP 110)

Gene Aliases

HGNC Name

A-kinase anchoring protein 3

HGNC Alias Symbols

FSP95; SOB1; AKAP110; CT82

Papers
RefSeq ID
Protein change
DNA change
1–12 of 158 variants
7 papers
NM_001278309.2
p.E525K
c.1573G>A
7 papers
NM_001278309.2
p.S700fs
c.2098_2099fs
6 papers
NM_001278309.2
p.T464S
c.1391C>G
6 papers
NM_001278309.2
p.I500T
c.1499T>C
5 papers
NM_001278309.2
p.T464S
c.1390A>T
5 papers
NM_001278309.2
p.S700delFs
c.2098delA
5 papers
NM_001278309.2
p.G701insFs
c.2102dupG
5 papers
NM_001278309.2
p.R831C
c.2491C>T
4 papers
NM_001278309.2
p.C15Y
c.44G>A
4 papers
NM_001278309.2
p.L460L
c.1378T>C
4 papers
NM_001278309.2
p.F479F
c.1437T>C
4 papers
NM_001278309.2
p.I661T
c.1982T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."